Hope For Anorchia

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Thursday, March 13, 2014

It has been quite some time since my last post. I feel a little ashamed because I really wanted to have a very productive blog going where people can get information and be proactive about their treatment. And I neglected it for almost two years!

Lots of things happened. I actually went through a big tragedy in my family and stress was added due to a monumental move across the country that followed. I guess that takes the attention away from anybody, right? Also, I was losing hope about my son’s condition. I felt so sad that I just did not want to think about it anymore. As if just not checking the blog or the facebook page as often will make it disappear.

Also, I tried to get pregnant again and I am now the mom of a happy 4 month old little girl while starting a new and challenging new job. Now talk about distractions!

I was re-reading what I wrote on my blog and realized that keeping a record, actual helps the condition. There are questions that we re-think again, unfortunately there are also new babies in this world coming with anorchia, and moms from everywhere desperately looking for answers just as I was.

I’ll try to fill in the gaps by re-telling experiences that I might have left out and I will also try to recruit more people to contribute to the blog so it gets more diverse and interesting.

Tuesday, July 19, 2011

Scientists turn stem cells into precursors for sperm, eggs

Findings also increase ability to study infertility, birth defects

BY KRISTA CONGER

Renee Reijo Pera

Human embryonic stem cells derived from excess IVF embryos may help scientists unlock the mysteries of infertility for other couples struggling to conceive, according to new research from the Stanford University School of Medicine. Researchers at the school have devised a way to efficiently coax the cells to become human germ cells — the precursors of egg and sperm cells — in the laboratory. Unlike previous research, which yielded primarily immature germ cells, the cells in this most-recent study functioned well enough to generate sperm cells.

“Ten to 15 percent of couples are infertile,” said senior authorRenee Reijo Pera, PhD. “About half of these cases are due to an inability to make eggs or sperm. And yet deleting or increasing the expression of genes in the womb to understand why is both impossible and unethical. Figuring out the genetic ‘recipe’ needed to develop human germ cells in the laboratory will give us the tools we need to trace what’s going wrong for these people.” Reijo Pera is a professor of obstetrics and gynecology at the medical school and the director of Stanford's Center for Human Embryonic Stem Cell Research and Education at the Institute for Stem Cell Biology and Regenerative Medicine. The study was published online by Nature on Oct. 28.

Previous efforts to study infertility have been hampered by the fact that — unlike many other biological processes — the human reproductive cycle cannot be adequately studied in animal models. And because germ cells begin to form very early in embryonic development (by eight to 10 weeks), there’s been a dearth of human material to work with. “Humans have a unique reproductive system,” Reijo Pera said. “Until now we’ve relied on studies in mice to understand human germ cell differentiation, but the reproductive genes are not the same. This is the first evidence that you can create functional human germ cells in a laboratory.”

The scientists built on previous research in the mid-1990s by Reijo Pera that identified a number of genes involved in male infertility. Members of what’s called the DAZ family, the genes are unusual in that they encode RNA-binding proteins rather than the DNA transcription factors more commonly known to regulate cellular events.

In the current study, the researchers treated human embryonic stem cells with proteins known to stimulate germ cell formation and isolated those that began to express germ-cell-specific genes — about 5 percent of the total. In addition to expressing key genes, these cells also began to remove modifications, or methyl groups, to their DNA that confer cell-specific traits that would interfere with their ability to function as germ cells. Such epigenetic reprogramming is a hallmark of germ cell formation.

They then used a technique called RNA silencing to examine how blocking the expression of each of three DAZ family members in the embryonic stem cells affected germ cell development. Conversely, they also investigated what happened when these genes were overexpressed.

They found that one family member, DAZL, functions very early in germ cell development, while two others, DAZ1 and BOULE, stimulate the then-mature germ cells to divide to form gametes. Overexpressing the three proteins together allowed the researchers to generate haploid cells — those with only one copy of each chromosome — expressing proteins found in mature sperm. (When a sperm and an egg join, the resulting fertilized egg again has two copies of each chromosome.) When treated in this manner, about 2 percent of the differentiated human embryonic stem cells were haploid after 14 days of differentiation.

The effect of the DAZ family members on the embryonic stem cells varied according to whether the cells were derived from a male or a female embryo. Overexpression of BOULE increased the relative proportion of putative germ cells from 2 to 12 percent in female, but not male, cell lines. This suggests that BOULE may play a larger role than the other proteins in the development of female germ cells.

The researchers plan to use a similar strategy to optimize the production of eggs from embryonic stem cells, as well as investigating whether reprogrammed adult cells called induced pluripotent cells, or iPS cells, can also be used to create germ cells. By charting the milestones of gamete development, they hope to identify potential problems that would lead to infertility or fetal disability.

“Although most of our birth defects are caused by problems in the development of eggs or sperm,” said Reijo Pera, “it’s not clear why there are so many errors. This research gives us a system we can use to compare errors in the germ line vs. somatic cells. For instance, we can now begin to directly investigate the effects of environmental toxins on germ cell differentiation and gamete development. We’ve already seen that, even in a dish, germ cells appear to be more sensitive to these compounds.”

Tuesday, June 7, 2011

We changed our Facebook Fan Page from "The Circle of Invisible Friends" to "Anorchia".

I think the name is easier to find using the search engine and might be less confusing.
I don't know I have the feeling that some people might have joined not really knowing what the page is really about.

So far we are 20 members. We seemed to stop right there, so I decided to change names and see how it works. Hopefully it will bring more new members.

The Spanish page for "Anorchia" is called "Anorquia" and is also on Facebook. As of today, we are 27 members and counting!

Wednesday, May 25, 2011

We finally have a Facebook Fan Page for Anorchia. It is called: "The Circle of Invisible Friends", and it has been created to provide an open space to everybody who has been impacted by Anorchia in one way or another.

It is very important to have a united group so we can spread the word and help making this condition more visible and also to start the path to find the cure.

The mission of "The Circle of Invisible Friends" is to support and strengthen the Anorchia awareness movement to become a powerful voice and advocate on behalf of Anorchia patients in the Us and beyond.

Monday, May 16, 2011

My son was born with congenital anorchia. I was 1st told that he had undecended testicles and they would come down on their own. After a few months, I went to another pediatrician for a 2nd opinion. I was then sent to a pediatric endocrinologist. I am very blessed to have such a wonderful doctor who has treated patients just like my son. Only 5% of boys are born with this condition and my son was the Dr's 3rd patient. He knew exactly how to treat, what info to give me, and how to handle the future.

At 5 months old, my son had an ultrasound done on his abdomen. This was done for 2 reasons: 1. To be sure that he had male sex organs and not both male and female and 2. To look and see if the testes were indeed in the abdomen.

Yes, my son is "all boy" he has male sex organs but no testicles. The news was devastating to me, I felt I did something wrong. My doctor assured me this had nothing to do with me, it was mother nature and I could have in no way made this happen to my son. I guess as a Mother you feel guilt when you find out something is wrong with your child. At 5 months old, my son had surgery. Exploratory abdominal surgery and testicular implants.

He then started low doses of testosterone after surgery. Injections every week to every other week. He had regular xrays to check bone growth/age. He also saw the pediatric endo. every year. As a baby, the injections were not long term, just enough for growth and to get levels in his body. At the time of diagnosis, my son had no testosterone in his system!

My son is now 11 years old. The doctor and I talked with him about his condition when he was 9 years old. He understands but it was heartbreaking, I stayed strong for my son but let it all out that night after he went to bed. He will see his doctor in June and begin testosterone therapy-it will be forever now. The therapy begins when puberty is present. I was told that testosterone isn't what kicks starts puberty, it's the adrenal gland. My son will grow hair, get a deeper voice, etc all w/o testosterone. He will need the hormone for muscle growth and genital growth. My son also has the option of having another surgery to put in bigger implants if he chooses.

I am very happy there is a support group available for us. I have searched the Internet for years and all I've found is sites that make you pay which is ridiculous. I am glad I can share my son's story, read about other people's experiences and ask questions. I am a single Mom raising my son, he is my only child. Not only does he have a fabulous doctor but my son and I have a very open relationship and he is able to ask me anything when it comes to his condition.

I am glad that my son knows and trusts that he can ask me anything and I will help him in any way possible, If I don't a have an answer, I simply tell him that and then contact his Doctor and we work through it. I look forward to reading others stories and know that with all of us supporting one another, we will raise awareness and a cure will soon be found! I have a page on facebook that I invite you to join and place information or experiences on the wall for others to see, it is my hope that maybe a health care professional or (fingers crossed) a physician comes across the page and it piques their curiosity to research anorchia and one day find a cure or just give us more answers as to why.

Friday, May 13, 2011

As you all know, I was fighting to find an endocrinologist who was willing to give my son the testosterone treatment that will allow him to have an average size penis.

He was born with a 2.5 cm long penis and in our opinion it was a little too close to what it is considered a micropenis: 2 cm.

Average length for his age is 4 cm.

We found an article on the internet that talks about a study conducted in 25 kids with anorchia at different ages, and pretty much all of them got results after getting 50 mg on a monthly basis for a total of three months.

At Children's Hospital in D.C., we found a great endocrinologist that prescribed the shots, although he prescribed 25 mg, apparently the amount does not make any difference.
They worked! Now we are looking for a doctor that can put implants in our baby.

Sunday, March 13, 2011

I am the mom of a beautiful, beautiful boy that unfortunately was born with undescended testes. After several lab tests we found out that most likely, his testes have vanished or they simply are non-functional due to non detectable testosterone and anti-mullerian levels.

He was diagnosed with hypogonadism and my husband and I were devastated, this is something you certainly don't expect and much less in your first experience as parents. I thought I did everything right. My pregnancy was very healthy, I only drank spring water, I even boiled my pasta with spring water! I took my vitamins, I did not gain weight, I quit cleaning or dying my hair to avoid chemical exposure...my boy was full term, weighed 9 pounds,but his scrotum was empty. Looks like a mutation happened the last months of my pregnancy that prevented the testicles from dropping and most likely they got damaged at some point.

His penis size is what it is considered "normal" on the low side but his father and I are concerned about its growth. We heard there is a study in Philadelphia that says that if an infant with this disorder gets testosterone on his first months of life his penis will have a normal growth, because that is the way it happens in normal boys.

We went to an endocrinologist who does not agree with that, so we are going for a second opinion. We definitely want the shots since we think that dealing with an empty scrotum and shots the rest of his life are hard enough, we don't want him to be concerned about his size too.

I have to confess that I am very scared about the future, and the happiness I feel for the arrival of my baby is shadowed by this finding.

I want to find the cure!

I believe the regeneration of the testes is the solution. It is being done right now and hopefully in 10 years will be more real.

I saw this video and felt really hopeful:

I started this blog to share my experience and also to invite other people dealing with anorchia. I would like to start a web site in the near future because I want to share not only experiences but also research papers that can give us some light and guidance in this difficult and still unknown journey.